| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131877024G>T | CA4002322 | ENPP1 | n.628G>T n.254G>T c.1756G>T (p.Gly586Ter) n.441G>T c.1247G>T n.800G>T c.*593G>T (n.*593G>T) c.646G>T (p.Gly216Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131877024G>A | CA10604066 | ENPP1 | n.628G>A n.254G>A c.1756G>A (p.Gly586Arg) n.441G>A c.1247G>A n.800G>A c.*593G>A (n.*593G>A) c.646G>A (p.Gly216Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |